Congenital and Hereditary Diseases

• Osteogenesis Imperfecta (OI) العظام هشاشة• Etiology:

• Mutation of two genes that encodes for α1 & α2 polypeptide chains of type I collagen (the main collagen of bone, tendon, and skin) leading to imperfect formation of osseous tissue.

• Signs:

• Present at birth but the onset may be in later developmental stages leading to limb deformities, dwarfism القزامة and some cases hearing impairment (deformation of auditory ossicle).

• Diagnosis:

• Radiograph evaluation reveals multiple fractures in various stages of healing and decrease in bone mass.

• X-ray film showed lower extremities (tibia and fibula) which was recognized after the child began to walk.

• Osteopetrosis: (Marble Bone) الرخامي العظم• Etiology

• An increase in bone density

• Normal bone growth is achieved by a balance between bone formation by osteoblasts and bone resorption (break down of bone matrix) by osteoclasts.

• In osteopetrosis, the number of osteoclasts may be reduced, normal, or increased. Most importantly, osteoclast dysfunction mediates the pathogenesis of this disease.

• Signs

• Heavy compact bones, brittle, which requires an increase in exposure factors.

• Associated with Osteosclerosis.

• Diagnosis

• Radiograph shows an increase in bone density and thickness with marked reduction of the bone marrow.

• Acondroplasia • Etiology • Autosomal dominant genetic disorder which causes an abnormality of

cartilage formation that is a common cause of dwarfism.• Signs • Most common hereditary disease.• Dwarfism • Short limbs with normal trunk• Small face with normal vault• Trident hands خطافية العمود Lordosis - يد إنحناء

الفقري• Diagnosis • A skeletal survey is useful to confirm the diagnosis of achondroplasia. • The skull is large, with a narrow foramen magnum, and relatively

small skull base. • The tubular bones are short and thick. • Fibular overgrowth is present.• The hand is broad with short metacarpals and phalanges, and a

trident configuration.

• Hand & Foot Malformations

• Etiology

• Abnormal development of toes and fingers during fatal stages.

• Signs

• Syndactyly األصابع زيادة Polydactyly - نقصان األصابع

• Diagnosis

• Webbed digits األصابع Extra digits- إلتصاق

Inflammatory Diseases• Bacterial Osteomyelitis

• Etiology

an infection (inflammation) of the bone (osteitis) or bone marrow (myelitis) caused by bacterial infection reach bone from blood or after trauma or surgery.

• In infants and children, the metaphysis of long bones, especially the femur and tibia, are most common affected.

• In adults, attacks the vertebrae, causing localized back pain and muscle spasm.

• Earliest changes of osteomyelitis are usually not evident on plain radiographs until about 10 days after the onset of symptoms, radionuclide (gallium) bone scanning is the most valuable imaging modality for early diagnosis.

Radiographic appearance

• Lytic abscess cavities, the cortex may become so dense.

• Vertebral osteomyelitis

loss of the sharp cortical outline.

Osteoarthritis

• Osteoarthritis is the commonest

form of arthritis. It is due to

degenerative changes resulting

from wearبلي and tear تمزق of the

articular cartilage. (Fig.2. A and

B)

• The common site of

osteoarthritis:

• Metatarsophalangeal joint of the

big toe, Wrist joint, Hip and knee

joint (frequently affected).

• Ankle (infrequently affected).

(Fig.2. C and D)

Fig 2.A

Fig 2.B

Fig 2.C Fig 2.D

• Radiographic changes seen in

osteoarthritis: (Fig.3 and 4)

1-Narrowing of the joint space due

to loss of the articular cartilage (1).

2- Reactive sclerosis of the

articular surfaces of the bone

ends (2).

3- Formation of osteophytes at the

articular margins (small (bone)

(3).

4- Development of cysts in the

sub articular regions (4).

1

2

3

4

• Clinical manifestations of OA may include:

• Joint pain.

• Tenderness.

• Stiffness.

• Creaking.

• Locking of joints.

• and sometimes local inflammation.

• Disease of elder patients.

• Loss of articular joint cartilage.

• Narrowing of joint space.

• Bony sclerosis around joint.

• Usually secondary to weight-bearing, chronic wear and tear.

• Rheumatoid arthritis:

• Rheumatoid arthritis is a polyarthritis

caused by inflammatory overgrowth of

synovium known as pannus.

• Features:

1- Periarticular soft tissue swelling and

osteoporosis are the earliest change.

2-Joint space narrowing due to destruction

of the articular cartilage by pannus.

3-Further destruction leads to small bony

erosion which occurs initially at the joint

Margins (Fig6).

• These erosions are often seen first

at:

1. Metatarso or metacarpophalangeal

joints.

2. Proximal interphalangeal joints.

3. On the styloid process of the ulna.

4. Similar changes are seen in the

large joints. (Fig.7).

• Later extensive erosions may

disrupt the joint surfaces. Ulnar

deviation is usually present at this

stage.

• With much severed destruction the

condition is referred to as arthritis

multilans (Fig .8)

Gout:• Gout is due to the deposition of urate crystal in the joint and in the adjacent bone.

• Gout most commonly affects the metatarsophalangeal joint of the big toe.

• Signs of gout: 1- Soft tissue swelling (is the earliest change)

2- Erosions (Later stage).

• Unlike RA may be at a distance

from the articular cortex (Fig.9)

3- There is usually no osteoporosis.

4- Localized soft tissue lumps(Fig. 9)

Paget’s DiseasePaget’s Disease

http://www.amershamhealth.com/medcyclopaedia/Volume%20III%201/Pagets%20disease.asp

Note hazyNote hazy ضبابيضبابي

appearance appearance of craniumof cranium

Fluffyزغبي radiodense cotton wool appearance

Paget's disease of bone • is a chronic disorder that can result in enlarged and misshapen

bones.

• Paget's is caused by the excessive breakdown and formation of bone, followed by disorganized bone remodelling.

• This causes affected bone to weaken, resulting in pain, misshapen bones, fractures and arthritis in the joints near the affected bones. 

• Often Paget's disease is localized to only a few bones in the body. The pelvis, femur, and lower lumbar vertebrae are the most commonly affected bones.

Paget's disease of right side. Man of 80 years age.